Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report
Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic K...
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| Veröffentlicht in: | Oncology letters 2012-08, Vol.4 (2), p.241-244 |
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| creator | PONTI, GIOVANNI POLLIO, ANNAMARIA PASTORINO, LORENZA PELLACANI, GIOVANNI MAGNONI, CRISTINA NASTI, SABINA FORTUNA, GIULIO TOMASI, ALDO SCARRÀ, GIOVANNA BIANCHI SEIDENARI, STEFANIA |
| description | Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS. |
| doi_str_mv | 10.3892/ol.2012.707 |
| format | Article |
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Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.</description><identifier>ISSN: 1792-1074</identifier><identifier>EISSN: 1792-1082</identifier><identifier>DOI: 10.3892/ol.2012.707</identifier><identifier>PMID: 22844361</identifier><language>eng</language><publisher>Greece: D.A. Spandidos</publisher><subject>Case reports ; Chromosomes ; Disease ; Families & family life ; Genes ; Genetic counseling ; Genotype & phenotype ; Gorlin syndrome ; Mutation ; nevoid basal cell carcinoma syndrome ; odontogenic keratocysts ; Oncology ; Patients ; Proteins ; PTCH1 ; Skin cancer ; Studies ; Tumors</subject><ispartof>Oncology letters, 2012-08, Vol.4 (2), p.241-244</ispartof><rights>Copyright © 2012, Spandidos Publications</rights><rights>Copyright Spandidos Publications UK Ltd. 2012</rights><rights>Copyright © 2012, Spandidos Publications 2012</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c440t-705b398f89a2b630c6b686257e81aded7d588f48e9b5cd101e8355fe1e3cc4e83</citedby><cites>FETCH-LOGICAL-c440t-705b398f89a2b630c6b686257e81aded7d588f48e9b5cd101e8355fe1e3cc4e83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402755/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3402755/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,723,776,780,881,5556,27901,27902,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22844361$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>PONTI, GIOVANNI</creatorcontrib><creatorcontrib>POLLIO, ANNAMARIA</creatorcontrib><creatorcontrib>PASTORINO, LORENZA</creatorcontrib><creatorcontrib>PELLACANI, GIOVANNI</creatorcontrib><creatorcontrib>MAGNONI, CRISTINA</creatorcontrib><creatorcontrib>NASTI, SABINA</creatorcontrib><creatorcontrib>FORTUNA, GIULIO</creatorcontrib><creatorcontrib>TOMASI, ALDO</creatorcontrib><creatorcontrib>SCARRÀ, GIOVANNA BIANCHI</creatorcontrib><creatorcontrib>SEIDENARI, STEFANIA</creatorcontrib><title>Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report</title><title>Oncology letters</title><addtitle>Oncol Lett</addtitle><description>Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.</description><subject>Case reports</subject><subject>Chromosomes</subject><subject>Disease</subject><subject>Families & family life</subject><subject>Genes</subject><subject>Genetic counseling</subject><subject>Genotype & phenotype</subject><subject>Gorlin syndrome</subject><subject>Mutation</subject><subject>nevoid basal cell carcinoma syndrome</subject><subject>odontogenic keratocysts</subject><subject>Oncology</subject><subject>Patients</subject><subject>Proteins</subject><subject>PTCH1</subject><subject>Skin cancer</subject><subject>Studies</subject><subject>Tumors</subject><issn>1792-1074</issn><issn>1792-1082</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>BENPR</sourceid><recordid>eNpdkV1rFDEUhgdRbKm98l4CgrTIrEkmmcl4IZRSq1BQRK9DJjmzO3UmZ0wyhf0n_lyz7Lp-hJCckzy8OSdvUTxndFWplr_BccUp46uGNo-KU9a0vGRU8cfHuBEnxXmM9zQPWTOl6qfFCedKiKpmp8XPzybZDTiywQlHXBNG1uCBTEsyaUBPLubVLaNt9eWSDN4tFiLx8ICDI52JZiQWxryYYAePkyFx613ACYjxjnj05eFgsOQ7BJPQbmPKCTr0CfNTOU7LhCG-JVdZJwIJMGNIz4onvRkjnB_2s-Lb-5uv1x_Ku0-3H6-v7korBE1lQ2VXtapXreFdXVFbd7WquWxAMePANU4q1QsFbSetY5SBqqTsgUFlrcjJWfFurzsv3QTOgk_BjHoOw2TCVqMZ9L83ftjoNT7oSlDeSJkFLg4CAX8sEJOehrj7FeMBl6iZ4rWUTdvWGX35H3qPS_C5Pc3aitesUaLN1Os9ZQPGGKA_FsOo3pmucdQ703U2PdMv_q7_yP62OAOv9kCcsyeDw_inubGkoqQ8T8GqX40stgA</recordid><startdate>20120801</startdate><enddate>20120801</enddate><creator>PONTI, GIOVANNI</creator><creator>POLLIO, ANNAMARIA</creator><creator>PASTORINO, LORENZA</creator><creator>PELLACANI, GIOVANNI</creator><creator>MAGNONI, CRISTINA</creator><creator>NASTI, SABINA</creator><creator>FORTUNA, GIULIO</creator><creator>TOMASI, ALDO</creator><creator>SCARRÀ, GIOVANNA BIANCHI</creator><creator>SEIDENARI, STEFANIA</creator><general>D.A. Spandidos</general><general>Spandidos Publications UK Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>20120801</creationdate><title>Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report</title><author>PONTI, GIOVANNI ; POLLIO, ANNAMARIA ; PASTORINO, LORENZA ; PELLACANI, GIOVANNI ; MAGNONI, CRISTINA ; NASTI, SABINA ; FORTUNA, GIULIO ; TOMASI, ALDO ; SCARRÀ, GIOVANNA BIANCHI ; SEIDENARI, STEFANIA</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c440t-705b398f89a2b630c6b686257e81aded7d588f48e9b5cd101e8355fe1e3cc4e83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Case reports</topic><topic>Chromosomes</topic><topic>Disease</topic><topic>Families & family life</topic><topic>Genes</topic><topic>Genetic counseling</topic><topic>Genotype & phenotype</topic><topic>Gorlin syndrome</topic><topic>Mutation</topic><topic>nevoid basal cell carcinoma syndrome</topic><topic>odontogenic keratocysts</topic><topic>Oncology</topic><topic>Patients</topic><topic>Proteins</topic><topic>PTCH1</topic><topic>Skin cancer</topic><topic>Studies</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>PONTI, GIOVANNI</creatorcontrib><creatorcontrib>POLLIO, ANNAMARIA</creatorcontrib><creatorcontrib>PASTORINO, LORENZA</creatorcontrib><creatorcontrib>PELLACANI, GIOVANNI</creatorcontrib><creatorcontrib>MAGNONI, CRISTINA</creatorcontrib><creatorcontrib>NASTI, SABINA</creatorcontrib><creatorcontrib>FORTUNA, GIULIO</creatorcontrib><creatorcontrib>TOMASI, ALDO</creatorcontrib><creatorcontrib>SCARRÀ, GIOVANNA BIANCHI</creatorcontrib><creatorcontrib>SEIDENARI, STEFANIA</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>British Nursing Database</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Oncology letters</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>PONTI, GIOVANNI</au><au>POLLIO, ANNAMARIA</au><au>PASTORINO, LORENZA</au><au>PELLACANI, GIOVANNI</au><au>MAGNONI, CRISTINA</au><au>NASTI, SABINA</au><au>FORTUNA, GIULIO</au><au>TOMASI, ALDO</au><au>SCARRÀ, GIOVANNA BIANCHI</au><au>SEIDENARI, STEFANIA</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report</atitle><jtitle>Oncology letters</jtitle><addtitle>Oncol Lett</addtitle><date>2012-08-01</date><risdate>2012</risdate><volume>4</volume><issue>2</issue><spage>241</spage><epage>244</epage><pages>241-244</pages><issn>1792-1074</issn><eissn>1792-1082</eissn><abstract>Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). Several PTCH1 mutations have been observed in NBCCS associated with keratocystic odontogenic tumors (KCOTs), including non-syndromic KCOTs. The missense mutation c.3277G>C (p.G1093R) in exon 19 of the PTCH1 gene has only been reported in non-syndromic KCOTs. The present study reports for the first time a familial case (father and daughter) of NBCCS and KCOTs, carrying the same c.3277G>C (p.G1093R) germline mutation. This observation suggests that this missense mutation is involved in the pathogenesis of NBCCS as well as in a subset of non-syndromic KCOTs. The identification of a missense mutation may lead to an earlier diagnosis of NBCCS.</abstract><cop>Greece</cop><pub>D.A. Spandidos</pub><pmid>22844361</pmid><doi>10.3892/ol.2012.707</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 1792-1074 |
| ispartof | Oncology letters, 2012-08, Vol.4 (2), p.241-244 |
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| language | eng |
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| source | Spandidos Publications Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Case reports Chromosomes Disease Families & family life Genes Genetic counseling Genotype & phenotype Gorlin syndrome Mutation nevoid basal cell carcinoma syndrome odontogenic keratocysts Oncology Patients Proteins PTCH1 Skin cancer Studies Tumors |
| title | Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report |
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